Sickle Cell Disease

What is Sickle Cell?

• A genetic disorder that affects hemoglobin, a protein in red blood cells
• Characterized by abnormal hemoglobin, called sickle hemoglobin (HbS)

Causes and Inheritance

• Autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent)
• More common in people of African, Mediterranean, and Middle Eastern descent
• Can also occur in people of Hispanic, South Asian, and Southeast Asian ancestry

Symptoms

• Anemia (low red blood cell count)
• Jaundice (yellowing of the skin and eyes)
• Fatigue
• Shortness of breath
• Increased risk of infections
• Episodes of pain (sickle cell crisis)
  • Often occurs in the hands and feet, but can occur in other parts of the body
  • Can be severe and debilitating
• Delayed growth and development in children

Complications

• Increased risk of infections, particularly pneumonia and meningitis
• Organ damage, including kidney and liver damage
• Stroke and seizures
• Blindness and vision problems
• Priapism (prolonged and painful erection)

Diagnosis

• Newborn screening tests for HbS
• Blood tests to detect HbS and confirm diagnosis
• Genetic testing for family members of those with sickle cell disease

Treatment and Management

• Pain management with medication
• Antibiotics to prevent infections
• Blood transfusions to increase red blood cell count
• Hydroxyurea to reduce complications
• Bone marrow transplantation in severe cases
• Lifestyle modifications, including staying hydrated and avoiding stress

What is Sickle Cell?

• A genetic disorder that affects hemoglobin, a protein in red blood cells, characterized by abnormal hemoglobin called sickle hemoglobin (HbS)

Causes and Inheritance

• Autosomal recessive disorder, requiring two copies of the mutated gene (one from each parent)
• More common in people of African, Mediterranean, and Middle Eastern descent
• Also occurs in people of Hispanic, South Asian, and Southeast Asian ancestry

Symptoms

• Anemia (low red blood cell count)
• Jaundice (yellowing of the skin and eyes)
• Fatigue
• Shortness of breath
• Increased risk of infections
• Episodes of pain (sickle cell crisis), often in hands and feet, but can occur elsewhere
• Delayed growth and development in children

Complications

• Increased risk of infections, particularly pneumonia and meningitis
• Organ damage, including kidney and liver damage
• Stroke and seizures
• Blindness and vision problems
• Priapism (prolonged and painful erection)

Diagnosis

• Newborn screening tests for HbS
• Blood tests to detect HbS and confirm diagnosis
• Genetic testing for family members of those with sickle cell disease

Treatment and Management

• Pain management with medication
• Antibiotics to prevent infections
• Blood transfusions to increase red blood cell count
• Hydroxyurea to reduce complications
• Bone marrow transplantation in severe cases
• Lifestyle modifications, including staying hydrated and avoiding stress

Learn about the genetic disorder that affects hemoglobin, its causes, inheritance, and symptoms. Understand how it affects red blood cells and its prevalence in different populations.